The smart way to learn. The smart way to teach.

MRCOG PART 2 SBAs and EMQs

Course PAID
notes334
EMQ1478
SBA2084
Do you realy want to delete this discussion?
Forum >>

Pure gonadal dysgenesis

Pure gonadal dysgenesis Posted by Sivapriya S.
Notes:

PURE GONADAL DYSGENESIS

? Associated with normal male karyotype

? Poor testicular differentiation - leads to female sexual differentiation by default

? Uterus / tubes / vagina usually present

? Life-time risk of malignancy in rudimentary testes ~30% - gonadectomy indicated in childhood with reconstruction of the external genitalia and oestrogen + progesterone replacement to induce pubertal development

Paul!
I have a doubt.
Aren\'t there two types of Pure gonadal dysgenesis, one with XX karyotype and one with XY karyotype.

PGD with XX has uterus and vaginapresents as Primary amenorrhea. PureGonadal Dysgenesis with XY presents as Primary amenorrhea, but no uterus and vagina, probably Swyer\'s syndrome

Only Mixed Gonadal dysgenesis has male karyotype and ovotestis , presenting as ambiguous genitalia .
Posted by Sivapriya S.
Paul!

My doubt arose in the context that the notes say that
Pure gonadal dysgenesis with Male karyotype with uterus,ovaries and vagina being present , is born with ambiguous genitalia.

Male karyotype with uterus,ovaries and vagina being present , born with ambiguous genitalia would be a mixed gonadal dysgenesis and not a pure gonadal dysgenesis.

Thank u.